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                <td data-label="【综合症中文名】">X连锁脊柱骨骼发育不良症</td>
                <td data-label="【中文别名】"> &nbsp;</td>
                <td data-label="【中文别名1】"> &nbsp;</td>
                <td data-label="【中文别名2】"> &nbsp;</td>
                <td data-label="【OMIM】">313400</td>
                <td data-label="【英文全名】">spondyloepiphyseal dysplasia tarda, X-linked</td>
                <td data-label="【英文别名】"> &nbsp;</td>
                <td data-label="【英文别名1】"> &nbsp;</td>
                <td data-label="【英文别名2】"> &nbsp;</td>
                <td data-label="【英文缩写】"> SEDT</td>
                <td data-label="【英文缩写2】"> &nbsp;</td>
                <td data-label="【英文缩写3】"> &nbsp;</td>
                <td data-label="【好发年龄】">婴儿期</td>
                <td data-label="【遗传方式】"> X连锁隐性遗传</td>
                <td class="left" data-label="【病因】">&nbsp;TRAPPC2（Trafficking protein particle complex 2）基因编码sedlin蛋白。sedlin蛋白是TRAPP复合体的组成部分，参与内质网－高尔基体间的膜泡运输 。 TRAPPC2基因突变可导致 X连锁脊柱骨骺发育不良症</td>
                <td data-label="【基因定位】">&nbsp;TRAPPC2基因（Xp22）</td>
                <td class="left" data-label="【临床表现】">患者皆为男性，表现为不成比例的矮小身材并伴有背部疼痛，脊柱侧凸、髋内翻、畸形足、面部扁平等；X线表现为椎体变扁和耻骨、股骨头、肱骨、腕骨、距骨、跟骨骨骺的骨化延迟等。患者也可有骨骼外表现如视网膜剥离和耳聋等，由于齿状突发育不良引起的寰枢椎不稳或齿状突低位均可导致神经症状</td>
                <td class="left" data-label="【特征表现】">
                  <ul>
                    <li>&nbsp;</li>
                    <li>1. 矮小</li>
                    <li>2. 脊柱侧弯 </li>
                    <li>3. 面部扁平 </li>
                    <li>4. 骨骺骨化延迟</li>
                    <li>5. 背痛</li>
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